hrp0082p1-d3-193 | Pituitary | ESPE2014

A Novel Mutation of OTX2 Associated with Neonatally Diagnosed Combined Pituitary Hormone Deficiency and Bilateral Microphthalmia

Shimada Aya , Takagi Masaki , Hasegawa Yukihiro

Background: Orthodenticlehomeobox 2 (OTX2) is a transcription factor implicated in pituitary, ocular, and craniofacial development. To date, more than 30 mutations in OTX2 have been described in congenital hypopituitarism (CH) with or without ocular malformation. The pituitary phenotype varied from isolated GH deficiency (IGHD) to Combined Pituitary Hormone Deficiency (CPHD). However, CPHD including ACTH deficiency from neonatal period was rare among the previous reports. Here...

hrp0084p2-432 | Gonads | ESPE2015

A Perioperative Change of Anti-Mullerian Hormone and E2 in a Patient with Sex Cord Tumour with Annular Tubules

Shimada Aya , Takagi Masaki , Miyai Kentaro , Fukuzawa Ryuji , Hasegawa Yukihiro

Background: Sex Cord Tumour with Annular tubules (SCTAT) is a rare ovarian benign tumour accounted approximately for 5% of ovarian tumour. SCTAT is an oestrogen producing ovarian tumour and can cause precocious puberty. For SCTAT, oophorectomy is recommended as the first-line therapy. Since SCTAT has a high rate of recurrence, it is clinically important to find a monitor method that can detect cancer recurrence in an early stage. In the previous reports, E2 and anti-mullerian ...